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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:cataract 44
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Accession:DOID:0110267 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22. (DO)
Synonyms:exact_synonym: CTRCT44;   congenital cataract-44;   total early-onset cataract
 primary_id: OMIM:616509
 xref: ORDO:98994


show annotations for term's descendants           Sort by:
cataract 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Cataract 44
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        lens disease 456
          cataract 446
            cataract 44 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              lens disease 456
                cataract 446
                  cataract 44 1
paths to the root